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Anderson disease, also known as glycogen storage disease type IV (MIM 232500), is a rare autosomal recessive disorder caused by a deficiency of glycogen branching enzyme. Glycogen storage disease type IV has a broad clinical spectrum ranging from a perinatal lethal form to a nonprogressive later-onset disease in adults. Here, we report 2 unrelated infants who were born small for their gestational age and who had profound hypotonia at birth and thus needed mechanical ventilation. Both of these patients shared the same frameshift mutation (c.288delA, pGly97GlufsX46) in the GBE1 gene. In addition, both of these patients were found to have 2 different large deletions in the GBE1 gene; exon 7 and exons 2 to 7, respectively, on the other alleles. This case report also highlights the need for a more comprehensive search for large deletion mutations associated with glycogen storage disease type IV, especially if routine GBE1 gene sequencing results are equivocal. [ABSTRACT FROM AUTHOR]

Background:Preeclampsia remains a leading cause of maternal mortality and preterm delivery. Both preeclampsia and bronchopulmonary dysplasia (BPD) of prematurity are associated with impaired angiogenesis. However, the relationship between maternal preeclampsia and BPD remains controversial. This study aims to test whether or not preeclampsia is associated with development of BPD in a cohort of premature infants. Materials and Methods:We conducted a retrospective cohort study assessing the association between preeclampsia and the risk of developing BPD in very-low-birth-weight (VLBW) infants registered in the Premature Baby Foundation of Taiwan from 1997 through 2006. All 21 neonatal departments in Taiwan participated in the data collection. A total of 8,653 VLBW infants were registered in the database. The exclusion criteria included congenital anomalies, chromosome anomalies, infants that died before 36 weeks post-conceptual (PCA), and those whose BPD status were unavailable. BPD was defined as oxygen dependence at 36 weeks postmenstrual age. The association between maternal preeclampsia and BPD was assessed using a multivariate-adjusted logistic regression model. Results:In the end, a total of 5,753 cases were enrolled in this study. The incidence of preeclampsia was 14.7% (n=847) and the overall incidence of BPD was 34.9%. Infants with maternal preeclampsia had a higher gestational age, higher incidence of cesarean section and being small for their gestational age, lower incidence of respiratory distress syndrome, patent ductus arteriosus, and sepsis. BPD occurred significantly less frequently in the maternal preeclampsia group (24.1% vs. 36.7%; adjusted odds ratio: 0.78; 95% confidence interval, 0.62–0.98). Subgroup analysis showed that the association between preeclampsia and BPD was significant only in those VLBW infants with a gestational age between 31–34 weeks. Conclusion:This data supports the association between fetal exposure to maternal preeclampsia and a reduced risk of BPD in relatively mature VLBW infants. [ABSTRACT FROM AUTHOR]

Intravitreal bevacizumab (IVB), an anti-vascular endothelial growth factor (VEGF) antibody, is a widely adopted treatment for retinopathy of prematurity (ROP). Although animal studies have demonstrated that IVB inhibits alveologenesis in neonatal rat lung, the clinical influence of IVB on respiratory outcomes has not been studied. Does IVB affect the respiratory outcome in preterm infants with bronchopulmonary dysplasia? We retrospectively assessed very low birth weight (VLBW) preterm infants admitted to our neonatal ICU between January 2016 and June 2021. Furthermore, we evaluated the short-term respiratory outcomes after IVB therapy in VLBW preterm infants requiring ventilatory support at 36 weeks' postmenstrual age (PMA). One hundred seventy-four VLBW preterm infants with bronchopulmonary dysplasia were recruited. Eighty-eight infants showed ROP onset before being ventilator free, and 78 infants received a diagnosis of the most severe ROP before being ventilator free. Among them, 32 received a diagnosis with type 1 ROP and received IVB treatment. After adjusting for gestational age, birth body weight, and baseline respiratory status, we discovered that IVB is associated significantly with prolonged ventilatory support and a lower likelihood of becoming ventilator free (hazard ratio, 0.53; P =.03). IVB may have a short-term respiratory adverse effect in patients requiring ventilatory support at 36 weeks' PMA. Therefore, long-term follow-up for respiratory outcomes may be considered in VLBW infants who receive IVB treatment. [Display omitted] [ABSTRACT FROM AUTHOR]

Esophageal atresia with/without tracheoesophageal fistula (EA/TEF) is a congenital digestive tract anomaly that represents a major therapeutic challenge. Postoperative digestive morbidities such as gastroesophageal reflux disease (GERD) and esophageal stricture are common. The aim of this study was to identify the incidence of and potential risk factors for digestive morbidities after EA/TEF repair. We retrospectively reviewed all EA/TEF patients who underwent repair at a single institution between January 1999 and December 2018, excluding patients who died prior to discharge. Patient demographics, perioperative management, and postoperative GERD and esophageal stricture rates were collected. We performed univariate and multivariate analyses to examine risk factors associated with postoperative GERD and esophageal stricture. The study enrolled 58 infants (58.6% male, 17.2% with type A EA/TEF, 62.1% with associated anomalies). Postoperative GERD occurred in 67.2% of patients and was the most common digestive morbidity. Esophageal stricture occurred in 37.9% of patients after EA/TEF repair. Multivariate analysis showed that long-gap EA/TEF and postoperative GERD were independent risk factors for esophageal stricture after repair surgery. Conclusion: The incidence of postoperative GERD and esophageal stricture was 67.2% and 37.9%, respectively. The risk factors for postoperative esophageal stricture were long-gap EA/TEF and postoperative GERD. What is Known: • EA/TEF is a congenital digestive tract anomaly with a high postoperative survival rate but can be complicated by many long-term morbidities. What is New: • Long-gap EA/TEF and postoperative GERD are risk factors of anastomotic stricture after repair. • Surgeons and pediatricians should be highly experienced in managing anastomotic tension and the GERD. [ABSTRACT FROM AUTHOR]

The association between air pollution and infant mortality has been inconsistently reported. A few studies have estimated short-term effects of air pollution on infants' health. This population-based case–control study aimed to examine the potential effects of air pollution on sudden infant death syndrome (SIDS) in the post-neonatal period in Taiwan during 1997–2002. Each case of infant death was matched with 20 randomly selected sex-matched controls who were born on the same day and were still alive. We obtained 24-h measurements of air pollutants and meteorological factors in each case and control with 1- to 14-day lags from 55 air-quality monitoring stations. After controlling for potential confounders, conditional logistic regression analysis was performed to estimate effects of air pollutants on SIDS (n = 398) and respiratory death (n = 121) among neonates. In single- and multi-pollutant models, we found that 100-ppb increment in carbon monoxide (Odds Ratio = 1.04–1.07) and 10-ppb increment in nitrogen dioxide (Odds Ratio = 1.20–1.35) with 1- to 14-day lags were associated with significant increase in SIDS, although a significant relationship between air pollution and respiratory death was not determined in 1- to 14-day lags. Short-term carbon monoxide and nitrogen dioxide exposure were associated with significant increase in SIDS in the post-neonatal period, with latency estimated within days before death. • Use population-based case–control methodology to examine the acute effects of air pollution on the SIDS. • Positive association between CO, NO 2 exposure and SIDS. • Traffic air pollution may play a key factor to SIDS with a latency of days before death. • Negative finding between respiratory death and air pollutant. [ABSTRACT FROM AUTHOR]

Objectives: This study aimed to assess the current neonatal nutritional practices in Taiwan and promote consensus on standardized protocols., Methods: An online questionnaire comprising 95 items on parenteral nutrition (PN) and enteral nutrition (EN) practices was distributed to neonatal care units across Taiwan via email between August and December 2022. The responses were compared with the recommendations from the European Society for Pediatric Gastroenterology Hepatology and Nutrition for preterm infant care., Results: Most of the 35 neonatal units, comprising 17 level III and 18 level II units, that participated in this study adhered to standard PN protocols; however, only 30% of units used protein-containing solutions as the initial fluid. Over half of the neonatal units provided calcium, phosphate, and magnesium at less than the recommended dosage. Trophic feeding commenced within 48 h in 88% of the units, with the mother's milk used as the first choice. All the units preferred commencing advanced feeding at <25 mL/kg/day., Conclusions: Most nutrient protocols for preterm infants in neonatal units in Taiwan meet recent guidelines, but discrepancies such as lower mineral supplements in PN and a slower advancement of enteral feeding increase nutritional risk. These issues warrant further research.

Background: Pregnant women may experience physical and emotional distress. Exercise is recommended for healthy pregnant women and is beneficial for their mental and physical health. Unsupervised home-based exercise is cost-effective for pregnant women as an occasional solution for their discomfort. However, no synthesis of randomized trials on this topic has been conducted., Aims: The aim of this study was to evaluate the effectiveness of unsupervised home-based exercise during pregnancy., Methods: A systematic search for randomized controlled trials was performed in electronic databases. The review extracted eligibility criteria based on unsupervised home-based exercise intervention. The quality of the included studies was performed using the Cochrane Risk of Bias Tool 2.0. This review was registered a priori in PROSPERO (CRD42023452966)., Results: In total, seven studies were selected for systematic review. Participant adherence rates for the three reported studies varied considerably, ranging from 33% to 75%. Two studies revealed that unsupervised home-based exercise improved symptom severity in relation to long-term adherence to exercise. Two studies suggested that maternal aerobic fitness increased due to exercise. One study revealed improved sleep quality. However, none of the studies supported the positive effects of exercise on fatigue, maternal insulin sensitivity, prenatal weight gain, postnatal weight loss, birth pain, and cesarean section., Linking Evidence to Action: Unsupervised home-based exercise improves discomfort symptoms during pregnancy but requires a long intervention period. This finding suggests that the evaluation period needs to be longer to identify the effects of exercise. In addition, a theoretical-based integrity exercise plan should be considered to promote the effectiveness of unsupervised home-based exercise., (© 2024 Sigma Theta Tau International.)

Background/purpose: Neonatal jaundice might result brain insults. Both autistic spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are developmental disorders, which might result from early brain injury at neonatal period. We aimed to explore the association between neonatal jaundice treated with phototherapy and the ASD or ADHD., Methods: This retrospective nationwide population cohort study was based on a nationally representative database of Taiwan, and neonates born from 2004 to 2010 were enrolled. All eligible infants were divided into 4 groups, without jaundice, jaundice with no treatment, jaundice with simple phototherapy only and jaundice with intensive phototherapy or blood exchange transfusion (BET). Each infant was follow-up until the date of incident primary outcomes, death, or 7-year-old, whichever occurred first. Primary outcomes were ASD, ADHD. Using cox proportional hazard model to analyze their associations., Results: In total, 118,222 infants with neonatal jaundice were enrolled, including diagnosed only (7260), simple phototherapy (82,990), intensive phototherapy or BET (27,972 infants). The cumulative incidences of ASD in each group was 0.57%, 0.81%, 0.77%, and 0.83%, respectively. The cumulative incidences of ADHD in each group was 2.83%, 4.04%, 3.52% and 3.48%, respectively. Jaundice groups were significantly associated with ASD, ADHD, or either one, even after all other extraneous maternal and neonatal variables were adjusted. After stratification, the associations were still existed in subgroup with birth weights ≥2500 grams and in male subgroup., Conclusion: Neonatal jaundice correlated with the ASD and ADHD. The associations were significant in infants of both sexes and with birth weights larger than 2500 grams., Competing Interests: Declaration of competing interest The authors have no conflicts of interest relevant to this article to disclose., (Copyright © 2023 Formosan Medical Association. Published by Elsevier B.V. All rights reserved.)

Objective: To evaluate the clinical effect of sodium glycerophosphate (NaGP) in parenteral nutrition solutions on mineral metabolism in extremely low birth weight (ELBW) infants., Study Design: NaGP was introduced for use in place of potassium phosphate (K 3 PO 4 ) in January 2018; this retrospective cohort study included 95 ELBW infants treated with K 3 PO 4 between January 2015 and December 2017 and 77 infants treated with NaGP between August 2018 and January 2021. Mineral intake over the first 14 days; changes in serum calcium, phosphorus, sodium, and alkaline phosphatase (ALP) levels over the first 1-3 months; and the rates of electrolyte imbalance and clinical morbidity were compared. High-risk infants who had nil per os (NPO) status for >14 days and prolonged parenteral nutrition exposure were further analyzed as a subgroup., Results: The use of NaGP instead of K 3 PO 4 significantly increased Ca and P intake, but intakes remained below the recommended range (Ca, 64-140 mg/kg/day; P, 50-108 mg/kg/day). Compared with levels in the K 3 PO 4 group, the NaGP group had significantly higher serum Ca and P levels after day 14 and lower ALP levels after day 56. In the subgroup analysis, the NaGP group had significantly lower incidences of hypophosphatemia, hyponatremia, bronchopulmonary dysplasia, and ALP >500 IU/L., Conclusions: Although the administration of NaGP instead of K 3 PO 4 in parenteral nutrition regimens still did not provide adequate Ca and P intake for ELBW infants, higher intake significantly improved serum Ca and P levels, especially in ELBW infants with prolonged parenteral nutrition exposure., (Copyright © 2022 Elsevier Inc. All rights reserved.)

Background: Sense of control during childbirth is a critical issue concerning the association between high-quality maternity care and infant health. This study explored the facilitators of or barriers to a sense of control and the need for interventions to raise women's experience in childbirth., Methods: The data came from 17 participants. Data collection was conducted in the childbirth room and within three days following childbirth, respectively. For tackling the research problems, participant observation and interviewing were applied. Thematic analysis was applied to the data analyzed., Results: Two themes were identified: (1) facilitators of or barriers to practice a sense of control and (2) Care needed for a sense of control. The effectiveness of a sense of control is related to energy refill, mental loading subsided, control over decisions, non-pharmacological usage, and support from the meaningful person. Care needed includes showing empathy, providing information, using complementary pain-relief strategies, and adjusting care by parturient conditions., Conclusion: This study highlights the influencing factors and interventions relating to women's sense of control during childbirth with epidural analgesia. The findings suggest that many approaches, such as white noise, benefit women's sense of control after an epidural. Using non-pharmacological methods, such as a birth ball, should be appropriately regulated by situations to enhance women's sense of control. Through the assessment, education, attention to maternal needs, and recognizing the barriers to a sense of control, women will benefit from the interventions designed to improve their sense of control during childbirth., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2022. Published by Elsevier Ltd.)

Background: During one week in September, one index case, followed by two cases of rotavirus gastroenteritis infection, was identified in a neonate intermediate care unit of a tertiary teaching children's hospital. An outbreak investigation was launched to clarify the possible infection source and to stop the spread of infection., Methods: Cohort care and environmental disinfection were immediately implemented. We screened rotavirus in all the unit neonates' stool samples as well as environmental swab samples. The precautionary measures with regard to hand hygiene and contact isolation taken by healthcare providers and family members were re-examined., Results: The fourth case was identified 5 days after commencement of the outbreak investigation. There were total 39 contacts, including 6 neonates, 8 family members, and 25 healthcare providers. Nineteen stool samples collected from other neonates in the units revealed one positive case (the fourth case). However, one sample taken from the computer keyboard and mouse in the ward was also positive. The observation of hygiene precautions and the use of isolation gowns by healthcare workers were found to be inadequate. Following the intensification of infection control measures, no further cases of infection were reported., Conclusions: Hand hygiene and an intensive isolation strategy remained the most critical precautions for preventing an outbreak of healthcare-associated viral gastroenteritis in the neonate care unit., (Copyright © 2019. Published by Elsevier B.V.)

Background: Soluble fms-like tyrosine kinase receptor-1 (sFlt-1)/placental growth factor (PlGF) ratio has been studied extensively as a predictive marker for pre-eclampsia. However, its usefulness for predicting neonatal outcomes remains unknown. This study aimed to evaluate the association of sFlt-1/PlGF ratio with pregnancy outcomes, neonatal morbidities and short-term postnatal growth patterns in pregnant women and their babies., Methods: sFlt-1 and PlGF were measured in women with fetal intrauterine growth retardation (IUGR) or pre-eclampsia during gestational age (GA) of 16-36 weeks. These women were classified into high- and low-ratio groups with a sFlt-1/PlGF cut-off ratio of 85. The maternal and neonatal outcomes were retrospectively reviewed and compared between the two groups., Results: A total of 25 pregnant women were recruited. Thirteen of them had a sFlt-1/PlGF ratio over 85 and twelve had a ratio of less than 85. The median duration from elevation of sFlt-1/PlGF to delivery was 4.5 weeks. Women in the high SFlt-1/PlGF ratio group had higher rates of intrauterine fetal demise (2/13 vs. 0/12) and early termination (1/13 vs. 0/12). The surviving offspring in this group had a higher incidence of preterm birth (GA: 31.4 ± 2.9 weeks vs. 37.3 ± 1.3 weeks, p < 0.001), lower birth weight (1142 ± 472 g vs. 2311 ± 236 g, p < 0.001), higher incidence of respiratory distress syndrome (6/10 vs. 0/12, p = 0.002) and bronchopulmonary dysplasia (4/10 vs. 0/12, p = 0.01). However, the percentile of body weight, height and head circumference at 28 days of age, 56 days of age and the corrected age of 6 months were comparable between groups., Conclusions: High sFlt-1/PlGF ratio in pregnant women is associated with poor pregnancy and neonatal outcomes. Therefore, the monitoring of sFlt-1/PlGF ratio in pregnant women with fetal IUGR and timely management for placenta-associated diseases are recommended., (Copyright © 2017. Published by Elsevier B.V.)

Background: Extracorporeal membrane oxygenation (ECMO) was used in neonates with severe cardiopulmonary failure who failed to respond to conventional therapy. We started to apply neck venoarterial ECMO (VA-ECMO) in neonatal patients from 2000. In this study, we have focused on neonates who received ECMO support and described the current status of ECMO in neonates for both cardiac and pulmonary support and the risk factors associated with their outcomes., Methods: Data were retrieved from our ECMO database for the neonates (age < 28 days) who received neck VA-ECMO support from January 2005 to June 2015., Results: In total, 27 neonates, including 21 with respiratory support and six with cardiac support, were enrolled in this study. Sixteen (59.2%) patients survived to hospital discharge, and only one patient had a poor neurological outcome. The survival rate for respiratory support was 61.9% in which meconium aspiration syndrome with persistent pulmonary hypertension of a newborn had a superior outcome (11/13, 84.6%) and congenital diaphragmatic hernia had the worst outcome (4/7, 57.1%). The survival rate in the cardiac support group was only 50%. The median ECMO duration and hospital stay were 6 (1∼35.8) days and 37 (23∼232) days, respectively, for survivors. Furthermore, 11 (52.3%) neonates of 21 outborn patients were put on ECMO in other hospitals by our mobile ECMO team for respiratory support, and their survival (81.8%) was significantly better than those from in-house ECMO institution (40%)., Conclusion: This is the first report for ECMO in neonatal disease in Taiwan. We achieved an overall survival rate of 59.2% with good neurological outcomes in this 10-year experience. ECMO could be a useful transportation tool for critical neonates who have a poor response to ventilator support., (Copyright © 2017. Published by Elsevier B.V.)

Background: Nasal continuous positive airway pressure (NCPAP) therapy is widely used in neonates, but the clinical practice varies. However, nursing practice differs among individuals, and an inappropriate application method may delay the respiratory therapy, influence the beneficial effect of NCPAP, and increase complications. We introduced a quality improvement project to expedite the application of NCPAP therapy and decrease the incidence of nasal trauma., Methods: A new strategy of mobile NCPAP cart with prepacked fixation kits and a written protocol was implemented from April 2006. All medical staff answered a questionnaire to assess their basic knowledge before and after intensive training. The records of the patients who were treated with NCPAP from October 2005 to November 2006 were reviewed., Results: Fifty-nine medical staff were involved in the project, and their mean score for the questionnaire improved from 69.2 points to 98.3 points after training. From October 2005 to November 2006, 113 infants were recruited in total and 82 of them were admitted after the protocol was implemented. The NCPAP cart dramatically shortened the preparation time (from 520 seconds to 72 seconds) and the application time (from 468 seconds to 200 seconds). The use of the nursing protocol significantly decreased the incidence of nasal trauma in the study population (45.2% vs. 19.6%, p = 0.006), but not in infants with a birth weight of < 1000 g. Risk factors for nasal skin trauma included lower gestational age and birth weight, longer duration of NCPAP use, and lack of standardized nursing care., Conclusion: The mobile NCPAP cart with prepacked fixation kits is a practical way of expediting the initiation of NCPAP therapy. The written nursing protocol decreased the incidence of nasal trauma in infants, except for those with an extremely low birth weight., (Copyright © 2016. Published by Elsevier B.V.)

Background: Although antenatal steroids and early use nasal continuous positive airway pressure (NCPAP) have significantly improved outcomes of neonatal respiratory distress syndrome, intubation with ventilator support is still commonly required in extremely low birth weight (ELBW) infants. The optimal timing of extubation in ELBW infants remains unclear., Methods: We retrospectively analyzed all ELBW preterm infants who were admitted to our neonatal intensive care unit (NICU) from January 2009 to December 2013. Demographic, ventilation, and arterial blood gas analysis results prior to and 2 hours after extubation were collected. Extubation failure was defined as reintubation due to deterioration of respiratory condition within 7 days after extubation. Risk factors for extubation failure were analyzed., Results: In total, 173 ELBW infants were born and admitted to our NICU during these 5 years. Among these 173 infants, 77 (44.5%) used NCPAP only during their hospitalization (20 diagnosed with chronic lung disease (CLD), 25.9%). Among the 95 patients that required intubation, 27 patients expired so extubation was not attempted. Sixteen of 68 (23.5%) survival cases required reintubation within 7 days after extubation. We found that gestational age, birth body weight, and sex ratio did not differ between the successful extubation group and the failed extubation group. Univariate analysis showed that the failed extubation group had a lower arterial pH right before and 2 hours after extubation, with a lower bicarbonate level after extubation. Further multivariate logistic regression analysis revealed an association between poor acid-base homeostasis 2 hours after extubation (pH < 7.3 and HCO 3  < 18 mM/L) and extubation failure (odds ratio 4.56 and 6.187 and 95% confidence interval: 1.263∼16.462 and 1.68∼22.791, respectively)., Conclusion: This study shows that nearly half of ELBW infants do not require intubation. Among ELBW infants who require invasive ventilator support, those who have lower postextubation arterial pH and bicarbonate levels are at high risk of extubation failure., (Copyright © 2016. Published by Elsevier B.V.)

Preterm labor is often a sudden event that impacts significantly on the health of the premature infant and on parenting behaviors. The prognosis for premature infants correlates positively with the effectiveness of parenting. Therefore, encouraging parental functions is important. The present paper reviews the literature on the concept of family-centered care in the contexts of premature-infant health problems, assesses the impacts of preterm birth on the parental role, and assesses the influences of parental dysfunction. We suggest that related interventions promote parental function in the five dimensions of parental bonding, confidence reinforcement, stress management, interpersonal support, and pre-discharge preparation. The intervention framework that is developed in the present paper is intended to assist clinical nurses to help parents use positive coping behavior to encourage healthy parental and family function and to promote the health of their premature infant.

Acute intra-abdominal abnormalities requiring emergency laparotomy in extremely low-birth-weight (ELBW) infants may increase morbidity and mortality. Focal intestinal perforations (FIPs) not due to necrotizing enterocolitis (NEC) are increasingly recognized in ELBW infants. We present an ELBW preterm male infant (24 weeks' gestation) with FIP who underwent successful abdominal surgery when the patient weighed 432 g. Three isolated intestinal perforations without any NEC were identified. The patient was stable and weighed 1142 g on the 100th day after surgery. Common morbidities associated with ELBW do not appear to be adversely affected by surgical intervention; however, long-term follow-up is essential to enhance future developmental outcomes upon survival.

We report a case of dilated cardiomyopathy presented in a premature infant of 27 weeks' gestational age. A prenatal sonography revealed left ventricular enlargement. The infant presented with respiratory distress and heart failure soon after birth. Echocardiograms performed after birth showed dilated cardiomyopathy, and endocardial fibroelastosis was suspected. Heart failure progressed despite administration of inotropic agents. The infant died after fifteen days from circulatory failure. Postmortem examination confirmed the diagnosis of endocardial fibroelastosis.

Background: Poor health outcomes among neonates born to aborigines has been reported in many countries. This study was aimed to examine the nationwide characteristics of live births, adverse birth outcomes, and age-specific mortality among neonates born to non-aboriginal and aboriginal parents in Taiwan., Methods: All neonates born alive during the period of 2000 to 2003 in Taiwan were included. The adverse birth outcomes including low birth weight, preterm, and small-for-gestational-age births, and age-specific mortality were obtained. Logistic regression analysis was used to estimate odds ratios for parental ethnicity in relation to birth outcomes, while Cox's proportional hazards regression models were used to estimate hazard ratios for parental ethnicity in relation to age-specific infant deaths., Results: A total of 947,317 live births were included that consisted of 9,381 born to aboriginal mothers, 6,429 born to aboriginal fathers, and 15,354 born to aboriginal parents. There was a gradual increase in the risk of having a baby with low birth weight, preterm, or small for gestational age born to the four parental aboriginal ethnicity groups: non-aboriginal parents, aboriginal mother only, aboriginal father only, and aboriginal parents. Similar trends were also found for early neonatal, neonatal, and infant mortalities after stratification of residential areas. The neonates born to both aboriginal parents with residence in rural or mountain areas were at highest risk of adverse birth outcomes and age-specific mortality., Conclusions: Our results demonstrated that aboriginality and residential area are important risk factors for adverse perinatal and infant outcomes.

Vein of Galen aneurysmal malformation (VGAM) often leads to death in the neonatal period, mainly due to congestive heart failure. Chronic and excessive pulmonary flow in utero and postnatally is attributed to large VGAM and right ventricular overload. We report a male neonate with VGAM complicated by severe heart failure and persistent pulmonary hypertension. Endovascular coil embolization of VGAM was performed, resulting in improvement of congestive heart failure; however, severe persistent pulmonary hypertension led to death 2 days after the embolization. Postmortem examination showed marked right and left ventricular hypertrophy and impressive muscular thickening of intra-alveolar arterioles. Neonatal embolization seems to be beneficial only in babies without suprasystemic pulmonary hypertension. Therefore, early delivery and repair of VGAM should be considered before the onset of persistent pulmonary hypertension.

The incidence of trisomy 18 in monozygotic twins is approximately 1 per million. We report a pair of liveborn monozygotic twins with trisomy 18. Both twins had esophageal atresia with tracheoesophageal fistula (type C) and intrauterine growth retardation. Twin A had cleft lip, choanal atresia and perimembranous ventricular septal defect. Twin B had hypoplastic left heart syndrome. The twins died without aggressive intervention at the age of 2 months and 52 hours, respectively. These 2 babies had significantly discordant phenotypes, which suggests an epigenetic or environmental effect. Bioethical considerations remain important in the care of babies with multiple congenital anomalies.

Background and Purpose: Several lines of evidence suggest that angiogenesis is necessary for alveolarization and that inhibition of vascular growth during a critical period of early growth may impair alveolarization. However, little is known about the role of angiogenic factors during alveolarization. This study investigated the expression patterns of the Ang-Tie-2 family of endothelium-specific receptor tyrosine kinases and vascular endothelial growth factors and their receptors (VEGF-VEGFR system) during postnatal mouse lung development., Methods: The lungs from 3 or 4 mice from groups aged 3, 7, 10 and 14 days and adults were removed and dissected from the main bronchi for reverse transcriptase-polymerase chain reaction (RT-PCR) analysis. Semi-quantitative RT-PCR of mouse lung total RNA was used to measure the expression levels of these angiogenic factors and their receptors., Results: During alveolarization, VEGF/Flk-1, Ang-1, Ang-2, and Tie-2 were up-regulated and PlGF/Flt-1 was kept at a relatively constant level. After alveolarization was completed, PlGF was down-regulated, Flt-1 was up-regulated, and VEGF/Flk-1, Ang-1, Ang-2, and Tie-2 were maintained at relatively high levels., Conclusions: During alveolarization, in mice, VEGF/Flk-1, Ang-1, Ang-2, and Tie-2 are up-regulated and PlGF/ Flt-1 is kept at relatively constant level to promote pulmonary microvascular development. In the adult mouse lung, when most of the vascular network is complete, PlGF is down-regulated and Flt-1 is up-regulated to stop angiogenesis and VEGF/Flk-1, Ang-1, Ang-2 and Tie-2 are kept at relatively high levels to maintain mature pulmonary microvasculature.

The metabolites of reoxygenation accumulate as toxic free radicals during physiological reactions. During an episode of asphyxia, 100% oxygen rather than 21% oxygen is usually used for resuscitation. Excessive free radicals and cell injury may be produced during reoxygenation following the hypoxic event. Prior research has shown that resuscitation with room air (21% oxygen) may be equally effective as 100% oxygen. The side effects are also less with room air. However, evidence-based studies on this topic are limited. It is, therefore, more appropriate to follow the recommendation of Neonatal Resuscitation Program that 100% oxygen should be used during neonatal resuscitation and the oxygen concentration should be adjusted according to the different condition of individual infants.

Neonatal diabetes mellitus (NDM) is a very rare disease defined as hyperglycemia that occurs during the first month of life, requires insulin treatment, and lasts more than 2 weeks. There are 2 types of NDM: permanent neonatal diabetes mellitus (PNDM) and transient neonatal diabetes mellitus (TNDM). We report a case of PNDM in a 3-day-old female infant. This full-term neonate was born small for gestational age. Respiratory distress, poor activity, hypothermia, poor feeding, dehydration, and ketoacidosis were noted at the age of 3 days. After insulin therapy and fluid replacement, her condition became stable. Glucagon test done at the age of 26 days showed serum C-peptide level to be low for her age. During the first year of life she had catch-up growth, but insulin therapy was still required. Serum C-peptide level was undetectable at the age of 15 months. The course of this case indicates the importance of a high index of suspicion for patients with PNDM in order to correct metabolic derangement as early as possible and facilitate normal growth and development under insulin therapy.

Hypercalcemia is occasionally found in newborns with subcutaneous fat necrosis and carries potential life-threatening risk. Bisphosphonates have been recently introduced in the treatment of subcutaneous fat necrosis in newborns. We report a case of extensive subcutaneous fat necrosis in a female infant complicated with intractable hypercalcemia. Standard treatment for hypercalcemia was given, including saline hydration, a low calcium diet, furosemide, and glucocorticoid, but without response. Serum 1,25-dihydroxyvitamin D level was elevated at 126 pg/mL, 25-hydroxyvitamin D level was normal, and intact parathyroid hormone was suppressed at < 1 pg/mL. Oral clodronate disodium, a second-generation bisphosphonate, was administered, and resulted in the normalization of serum calcium, urine N-telopeptide, urine calcium/creatinine ratio, and serum intact parathyroid hormone level. This case suggests that oral clodronate may be an effective treatment for subcutaneous fat necrosis with hypercalcemia in newborns.

Although enteroviruses can cause overwhelming and fatal systemic infections in neonates, such severe neonatal infections remain uncommon and rarely involve both of twin neonates at the same time. We report the cases of twin neonates who developed fever initially, and then progressed to disseminated systemic disease with marked thrombocytopenia, coagulopathy, and hepatic failure. One of the neonates died and the other survived. Both neonates were treated with intravenous immunoglobulin and maternal fresh frozen plasma was also given to the neonate who survived. Virus cultures from the nasopharynx, rectum and cerebral spinal fluid of both neonates yielded enterovirus, later typed as echovirus 30. The surviving neonate had normal development without obvious sequelae during a follow-up period of 1 year. The major determinant of the survival from severe neonatal enterovirus infection might have been the pre-existing severity of the disease before treatment, and complete recovery could be expected if the infant survived the acute stage of illness.

Unilateral pulmonary agenesis with esophageal atresia is a rare condition. Patients with this condition almost die of respiratory failure during early infancy. We describe a case of a premature female infant who has tracheal stenosis, right lung agenesis and esophageal atresia at the same time. Because of respiratory failure, this baby passed away at the age of 39 days.

This study determined the incidence, clinical characteristics, treatment and outcome in extremely low birth-weight (ELBW) premature infants with perforated necrotizing enterocolitis (NEC). We retrospectively reviewed the medical records of ELBW (birth weight <1000 g ) premature infants with perforated NEC diagnosed and managed at National Taiwan University Hospital (NTUH) from January 1993 through December 2000. A total of 8 ELBW premature infants with perforated NEC were collected. The incidence of perforated NEC in ELBW premature infants was 5.1% (8 out of 158). The average age at onset of perforated NEC was 26 days. The most common clinical features were abdominal distention, decreased bowel sound and poor activity level. Dilated and fixed bowel loops, bowel wall thickening and ascites with stool-like substance drainage out from penrose drain tube were the predominant signs at the time of diagnosis of perforated NEC. Thrombocytopenia, elevated C-reactive protein and anemia were the major laboratory findings. All infants received a primary penrose drain in the acute stage of disease. The overall survival rate was 37.5% (3 out of 8). Death occurred due to nosocomial infection with sepsis in 3 patients and due to perforated NEC in 2 patients. Two of the three surviving patients started enteral feeding 19 and 41 days after the diagnosis of perforated NEC and tolerated oral feedings well; the third patient still required total parenteral nutrition two years after diagnosis. Although the clinical characteristics and radiographic findings of perforated NEC in ELBW premature infants were variable, brown color ascites with stool-like substance may be considered a significant sign of perforated NEC despite the absence of free air on radiography at the early stage of disease. Close observation of clinical symptoms and signs, more aggressive surgical intervention and prevention of the following nosocomial infection may have the opportunity to reduce the mortality due to perforated NEC.

Background and Purpose: This study compared the neonatal outcome between infants born after in vitro fertilization (IVF) and after natural conception at National Taiwan University Hospital., Methods: All medical records of women who underwent IVF and gave birth at our hospital from January 1995 to December 1996 were reviewed. The charts of their offspring were also reviewed. We compared the neonatal outcome of infants born after IVF with that of infants born after natural conception. Neonatal outcome was evaluated based on preterm birth, very low birth weight (VLBW), perinatal morbidity, and neonatal mortality., Results: A total of 75 women underwent IVF and gave birth to a total of 100 live newborns and two fetuses with intrauterine death during the 2-year study period. Among these newborns, the prevalence of preterm birth was 28%, of perinatal morbidity was 17%, and of neonatal mortality was 3%, which were significantly higher than those among the 7,736 neonates born after natural conception. However, the rate of VLBW was similar between the two groups. The rate of preterm birth for twin pregnancies were higher than that for singleton pregnancies in both groups., Conclusion: This study showed that infants born after IVF had a higher risk of preterm birth and higher perinatal morbidity and neonatal mortality.

Cockayne syndrome is one of the families of rare progeroid syndromes. We report on two female siblings suffering from Cockayne syndrome. At birth, they both appeared normal, although both demonstrated a low birth weight and breech presentation. The first-born child died at the age of eight months with associated contracted limbs, brain calcification, and photosensitivity. The younger sibling exhibited short stature, microcephaly, a beaked nose and malformed ears, spasticity, photosensitivity, pigmented degeneration of the retina, and psychomotor retardation at the age of six years. Intracranial calcification and the absence of a brain stem-evoked potential were also noted. Testing her skin fibroblasts, which showed a moderate UV sensitivity and a severe deficiency of transcription-coupled repair established the diagnosis of Cockayne syndrome. Genetic counseling was offered for the family.